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        {
          "allele": "C",
          "end": 766,
          "endIntronDirection": "-",
          "endIntronOffset": 4906,
          "referenceAllele": "T",
          "start": 766,
          "startIntronDirection": "-",
          "startIntronOffset": 4907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "NM_001135937.3:c.641-4907T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129409.1:n.641-4907T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712469"
    }
  ],
  "type": "nucleotide"
}